by Laurence Pougnet  , Gilles Nevez  and Solène Le Gal

Received: 17 December 2018;  Published: 22 May 2019;  doi: 10.21926/obm.genet.1902080

Pneumocystis pneumonia (PCP) is the most frequent AIDS-defining disease among HIV-infected individuals in developed countries, and also affects immunocompromised non-HIV patients. Experimental studies on rodent models carried out in the early eighties have shown that Pneumocystis spp. can be transmitted via the airborne route. Unfortunately, this mode of acquisition and transmission has long been overlooked by physicians because PCP in immunosuppressed patients was considered to result from reactivation of a latent [...]

by Boel De Paepe

Received: 28 February 2019;  Published: 16 May 2019;  doi: 10.21926/obm.genet.1902079

In order to successfully recover from damage, skeletal muscle tissue requires proper activation of a tightly orchestrated repair program. Non-coding RNAs actively participate in this complex process of demolition and rebuilding. In this review, the contribution of dysregulated non-coding RNA expression to disease-associated pathological changes is explored in hereditary muscular dystrophies and idiopathic inflammatory myopathies. Disturbances in spatiotemporal expression of non-coding RNAs appear to be key factors [...]

by Christine Demanche  , Jacques Guillot  and Magali Chabé

Received: 22 February 2019;  Published: 15 May 2019;  doi: 10.21926/obm.genet.1902078

Pneumocystis spp. are a group of fungi that are known for causing opportunistic infections in immunocompromised individuals. It was only at the end of the 20th century that the scientific community challenged the notion of a unique species in the genus Pneumocystis (i.e., Pneumocystis carinii) that drastically changed the understanding of the natural history of pneumocystosis. It is now accepted that the Pneumocystis genus comprises a group of heterogenous fungi having multiple stenoxenic biological entities. These [...]

by Hagit Daum  , Simcha Yagel  and Mordechai Shohat

Received: 11 March 2019;  Published: 15 May 2019;  doi: 10.21926/obm.genet.1902077

Background: Fetal exome sequencing is becoming a crucial modality for genetic investigation whenever fetal malformations are documented in the context of normal chromosomal microarray analysis (CMA). When ultrasound findings are non-specific, the robustness of exome sequencing may be the only way to achieve a molecular diagnosis during pregnancy. Case: We describe a case of multiple non-specific fetal findings with the eventual diagnosis of fetal Kabuki Syndrome by exome sequencing. Conclusions: This case stresses [...]

by Yuri B. Yurov  , Svetlana G. Vorsanova  and Ivan Y. Iourov

Received: 06 February 2019;  Published: 30 April 2019;  doi: 10.21926/obm.genet.1902076

The human brain has been repeatedly shown to exhibit intercellular/somatic genomic variations at the chromosomal level, which are involved in the neuronal diversity in health and disease. Brain-specific chromosomal mosaicism (aneuploidy) and chromosome instability play a role in the normal and pathological neurodevelopment, neurodegeneration and aging of the central nervous system. Regardless of achievements in somatic cell (single-cell) genomics, there is still no consensus on the amounts of chromosomally abnormal [...]

by Marcel Mannens

Received: 24 April 2019;  Published: 30 April 2019;  doi: 10.21926/obm.genet.1902075

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by Rita Payan-Carreira

Received: 30 December 2018;  Published: 29 April 2019;  doi: 10.21926/obm.genet.1902074

In a mammal, at the beginning of its development, the gonad is bipotential. The shift into a male or female pathway is coordinated by the sex chromosomal complement, which triggers a series of genetic pathways signaling the developmental pattern of the gonadal anlage. Being mutually exclusive, the differentiated gonad should be either a testis or an ovary. In females, the absence of SRY, a testis-determining gene, drives the signaling cascades controlling the ovarian differentiation. Albeit rare, disorders of the g [...]

by Racha El-Hajj Ghaoui  , Dorothy Hung  and Bhavna Padhye

Received: 24 December 2018;  Published: 17 April 2019;  doi: 10.21926/obm.genet.1902073

Hypodiploidy has a low incidence in childhood acute lymphoblastic leukaemia (ALL). Patients are usually stratified into three subgroups, to allocate the correct treatment according to their ploidy level: high hypodiploidy (40-45 chromosomes), low hypodiploidy (33-39 chromosomes) and near haploidy (23-29 chromosomes). In this paper, a case is presented of near-haploid childhood ALL where fluorescence in situ hybridisation (FISH) provided an insight into the near-haploidy chromosomal aberration initially missed on ro [...]

by Rafail Nikolaos Tasakis  , F. Nina Papavasiliou  and Rita Shaknovich

Received: 03 December 2018;  Published: 08 April 2019;  doi: 10.21926/obm.genet.1902072

Cancer development and progression is strongly associated with somatic mutations. From oncogenic hits that initiate the primary tumor formation to metastasis, the tumor mutational burden (TMB) plays a prominent role in the disease progression for the vast majority of cancer types. Not only are heterogeneous mutational loads or genetic heterogeneity causal to transcriptomic and proteomic discrepancies and to phenotypic diversity between individuals, they are also between tumor cells. But in addition to mutations, a [...]

by Jennie Cao  , Valentina L Kouznetsova  and Igor F Tsigelny

Received: 30 January 2019;  Published: 01 April 2019;  doi: 10.21926/obm.genet.1902071

Cancer is the leading cause of death in dogs, and 50 percent of dogs over the age of 10 develop cancer at some point. The most common cancers in dogs include lymphoma, mast cell tumors, osteosarcoma, mammary gland tumors, and melanoma, and many of them share marked similarities with their human counterparts. Although canines are afflicted with many of the same types of cancers as humans, the genetic basis behind these cancers are not as well understood. Thus, the aim of this study is to elucidate some of the molecu [...]